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Updated: May 25, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Genetic analysis of a supernumerary derivative chromosome 15]
Fang Wang1, Yao Yang, Chun-zhi Wang
1Institute of Clinical Genetics, Bayi Children's Hospital, the General Hospital of Beijing Military Region, P. R. China.
Objective:
To detect and analyze a supernumerary derivative chromosome 15 with combined cytogenetic and molecular techniques, and to discuss the correlation between genomic copy number variations (CNVs) and clinical phenotypes.
Methods:
G-banded chromosome analysis and multiplex ligation-dependent probe amplification (MLPA) were carried out. The whole genome of the patient was also analyzed with array-comparative genome hybridization(array-CGH).
Results:
G-banding analysis indicated that the patient has a karyotype of 47, XY, + mar, with the supernumerary chromsome derived from 15q11-13 region spanning 9.8 Mb from locus 20477397 to 30298155.
Conclusion:
CNVs of 15q11-13 are associated with mental retardation, language development delay and autistic disorder. Conventional cytogenetic analysis with array-CGH may provide a platform for accurate detection of chromosomal aberrations, which can faciliate the study of genome rearrangement underlying various diseases.
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